ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827317957
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525443
ClinVar RCV Id:
RCV000629502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317437.1:p.Ser11Cys
CA8813355
NM_001330508.2:c.32C>G